Canonical Allele Identifier: CA340621156

Gene: USP1

Linked Data

• dbSNP Id: rs1474150251
• gnomAD v4: 1-62447487-T-C
• MyVariant Identifiers: chr1:g.62913158T>C (hg19) ; chr1:g.62447487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.62447487T>C , CM000663.2:g.62447487T>C	GRCh38
NC_000001.10:g.62913158T>C , CM000663.1:g.62913158T>C	GRCh37
NC_000001.9:g.62685746T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339950.5:c.1396T>C MANE Select	ENSP00000343526.4:p.Ser466Pro
ENST00000339950.4:c.1396T>C	ENSP00000343526.4:p.Ser466Pro
ENST00000371146.5:c.1396T>C	ENSP00000360188.1:p.Ser466Pro
NM_001017415.1:c.1396T>C	NP_001017415.1:p.Ser466Pro
NM_001017416.1:c.1396T>C	NP_001017416.1:p.Ser466Pro
NM_003368.4:c.1396T>C	NP_003359.3:p.Ser466Pro
NM_003368.5:c.1396T>C MANE Select	NP_003359.3:p.Ser466Pro
NM_001017415.2:c.1396T>C	NP_001017415.1:p.Ser466Pro
NM_001017416.2:c.1396T>C	NP_001017416.1:p.Ser466Pro